I have a friend who told me there is not yet a cure for osteogenesis imperfecta. He suffers from this disease, and he said that treatment is directed toward preventing or controlling the symptoms. With treatment, he is trying to maximize independent mobility, and develop optimal bone mass and muscle strength. I feel sorrow for everyone who suffers from any disease, especially if he is my friend. That is why I would like to hear more and understant this problem called osteogenesis imperfecta.
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Osteogenesis imperfecta is a genetic disorder characterized by bones that break easily, often from little or no apparent cause for it. There are at least four recognized forms of the disorder, representing a range of severities for osteogenesis imperfecta. For example, a person may have just a few or several hundred fractures in a lifetime. Osteogenesis imperfecta is caused by a genetic defect that affects the body’s production of collagen. This substance called collagen is the major protein of the body’s connective tissue. It can be likened to the framework around which a building is constructed, but in this disease, a person has either less collagen than normal, or a poorer quality of collagen than normal. This is leading to weak bones that fracture easily. Clinical geneticists can also perform biochemical or molecular tests that can help confirm a diagnosis of osteogenesis imperfecta in some situations. These tests generally require several weeks before results are known to doctors and patient. Both the collagen biopsy test and DNA test are thought to detect almost 90% of all collagen type 1 mutations, which could happen during osteogenesis imperfecta.
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